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Items: 1 to 20 of 3491

1.

rs1491023251 has merged into rs905731679 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>-,AA [Show Flanks]
    Chromosome:
    1:3947652 (GRCh38)
    1:4007712 (GRCh37)
    Canonical SPDI:
    NC_000001.11:3947651:AAAAAAA:AAAAAA,NC_000001.11:3947651:AAAAAAA:AAAAAAAA
    Gene:
    LINC01346 (Varview), LINC01345 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    -=0.000326/43 (GnomAD)
    -=0.000404/107 (TOPMED)
    HGVS:
    2.

    rs1490956326 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:3945912 (GRCh38)
      1:4005972 (GRCh37)
      Canonical SPDI:
      NC_000001.11:3945911:G:A
      Gene:
      LINC01346 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000019/5 (TOPMED)
      A=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490927047 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:3940235 (GRCh38)
        1:4000295 (GRCh37)
        Canonical SPDI:
        NC_000001.11:3940234:C:T
        Gene:
        LINC01346 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490672929 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          1:3946785 (GRCh38)
          1:4006845 (GRCh37)
          Canonical SPDI:
          NC_000001.11:3946784:T:G
          Gene:
          LINC01346 (Varview), LINC01345 (Varview)
          Functional Consequence:
          intron_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490498473 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:3939762 (GRCh38)
            1:3999822 (GRCh37)
            Canonical SPDI:
            NC_000001.11:3939761:G:A
            Gene:
            LINC01346 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490419846 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:3952702 (GRCh38)
              1:4012762 (GRCh37)
              Canonical SPDI:
              NC_000001.11:3952701:A:C
              Gene:
              LINC01346 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490349236 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:3946049 (GRCh38)
                1:4006109 (GRCh37)
                Canonical SPDI:
                NC_000001.11:3946048:T:G
                Gene:
                LINC01346 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490143727 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:3939927 (GRCh38)
                  1:3999987 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:3939926:C:G
                  Gene:
                  LINC01346 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489855034 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:3946381 (GRCh38)
                    1:4006441 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:3946380:C:T
                    Gene:
                    LINC01346 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1489598729 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:3942640 (GRCh38)
                      1:4002700 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:3942639:G:C
                      Gene:
                      LINC01346 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000014/2 (GnomAD)
                      C=0.00003/8 (TOPMED)
                      C=0.00006/1 (TOMMO)
                      C=0.000684/2 (KOREAN)
                      HGVS:
                      11.

                      rs1489491736 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:3948484 (GRCh38)
                        1:4008544 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:3948483:G:A
                        Gene:
                        LINC01346 (Varview), LINC01345 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489135149 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:3941697 (GRCh38)
                          1:4001757 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:3941696:G:C
                          Gene:
                          LINC01346 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489085073 has merged into rs144974444 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            1:3942351 (GRCh38)
                            1:4002411 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:3942339:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            LINC01346 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTT=0./0 (ALFA)
                            -=0.275/11 (GENOME_DK)
                            HGVS:
                            NC_000001.11:g.3942351_3942369del, NC_000001.11:g.3942352_3942369del, NC_000001.11:g.3942353_3942369del, NC_000001.11:g.3942354_3942369del, NC_000001.11:g.3942355_3942369del, NC_000001.11:g.3942356_3942369del, NC_000001.11:g.3942357_3942369del, NC_000001.11:g.3942358_3942369del, NC_000001.11:g.3942359_3942369del, NC_000001.11:g.3942360_3942369del, NC_000001.11:g.3942361_3942369del, NC_000001.11:g.3942362_3942369del, NC_000001.11:g.3942363_3942369del, NC_000001.11:g.3942364_3942369del, NC_000001.11:g.3942365_3942369del, NC_000001.11:g.3942366_3942369del, NC_000001.11:g.3942367_3942369del, NC_000001.11:g.3942368_3942369del, NC_000001.11:g.3942369del, NC_000001.11:g.3942369dup, NC_000001.11:g.3942368_3942369dup, NC_000001.11:g.3942367_3942369dup, NC_000001.11:g.3942366_3942369dup, NC_000001.11:g.3942365_3942369dup, NC_000001.11:g.3942364_3942369dup, NC_000001.11:g.3942363_3942369dup, NC_000001.11:g.3942362_3942369dup, NC_000001.10:g.4002411_4002429del, NC_000001.10:g.4002412_4002429del, NC_000001.10:g.4002413_4002429del, NC_000001.10:g.4002414_4002429del, NC_000001.10:g.4002415_4002429del, NC_000001.10:g.4002416_4002429del, NC_000001.10:g.4002417_4002429del, NC_000001.10:g.4002418_4002429del, NC_000001.10:g.4002419_4002429del, NC_000001.10:g.4002420_4002429del, NC_000001.10:g.4002421_4002429del, NC_000001.10:g.4002422_4002429del, NC_000001.10:g.4002423_4002429del, NC_000001.10:g.4002424_4002429del, NC_000001.10:g.4002425_4002429del, NC_000001.10:g.4002426_4002429del, NC_000001.10:g.4002427_4002429del, NC_000001.10:g.4002428_4002429del, NC_000001.10:g.4002429del, NC_000001.10:g.4002429dup, NC_000001.10:g.4002428_4002429dup, NC_000001.10:g.4002427_4002429dup, NC_000001.10:g.4002426_4002429dup, NC_000001.10:g.4002425_4002429dup, NC_000001.10:g.4002424_4002429dup, NC_000001.10:g.4002423_4002429dup, NC_000001.10:g.4002422_4002429dup
                            14.

                            rs1488773313 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:3951014 (GRCh38)
                              1:4011074 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:3951013:G:T
                              Gene:
                              LINC01346 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1488517976 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:3948890 (GRCh38)
                                1:4008950 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:3948889:G:A
                                Gene:
                                LINC01346 (Varview), LINC01345 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488305262 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:3940326 (GRCh38)
                                  1:4000386 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:3940325:A:G
                                  Gene:
                                  LINC01346 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000108/2 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  G=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1488121834 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:3950306 (GRCh38)
                                    1:4010366 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:3950305:G:A
                                    Gene:
                                    LINC01346 (Varview), LINC01345 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000036/5 (GnomAD)
                                    A=0.00006/16 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487956142 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:3947341 (GRCh38)
                                      1:4007401 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:3947340:G:A
                                      Gene:
                                      LINC01346 (Varview), LINC01345 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487856411 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        1:3948090 (GRCh38)
                                        1:4008150 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:3948089:C:G,NC_000001.11:3948089:C:T
                                        Gene:
                                        LINC01346 (Varview), LINC01345 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1487500738 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          1:3941180 (GRCh38)
                                          1:4001240 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:3941179:G:C
                                          Gene:
                                          LINC01346 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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